Canonical Allele Identifier: CA2620933466

Gene: SH2B3

Linked Data

• gnomAD v4: 12-111418674-G-GGCCTGGCCAAGAAGTTCCTGCCCTGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418683_111418709dup , CM000674.2:g.111418683_111418709dup	GRCh38
NC_000012.11:g.111856487_111856513dup , CM000674.1:g.111856487_111856513dup	GRCh37
NC_000012.10:g.110340870_110340896dup	NCBI36
NG_021216.1:g.17736_17762dup , LRG_621:g.17736_17762dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.538_564dup MANE Select	ENSP00000345492.2:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuA...
ENST00000341259.6:c.538_564dup	ENSP00000345492.2:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuA...
ENST00000550925.2:c.344_370dup
NM_005475.2:c.538_564dup , LRG_621t1:c.538_564dup	NP_005466.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XM_005253818.3:c.538_564dup	XP_005253875.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XM_005253819.3:c.538_564dup	XP_005253876.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XM_011537719.1:c.538_564dup	XP_011536021.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XM_011537720.1:c.538_564dup	XP_011536022.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XM_011537722.1:c.538_564dup	XP_011536024.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XM_005253818.4:c.538_564dup	XP_005253875.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XM_005253819.4:c.538_564dup	XP_005253876.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XM_011537719.2:c.538_564dup	XP_011536021.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XM_011537720.3:c.538_564dup	XP_011536022.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XM_024448790.1:c.538_564dup	XP_024304558.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla
XR_001748535.1:n.939_965dup
XR_001748536.1:n.938_964dup
XR_002957278.1:n.935_961dup
NM_005475.3:c.538_564dup MANE Select	NP_005466.1:p.Ala188_Arg189insLysLysPheLeuProTrpSerLeuAla